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Epidermolysis Bullosa Precision Panel Overview Epidermolysis Bullosa (EB) is a group of genetic bullous disorders characterized by skin fragility and blistering of the skin and mucous membranes in response to minimal trauma. Although clinically and genetically very heterogeneous, it has been classified into four main types according to the layer of the skin in which blistering occurs: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa and Kindler epidermolysis bullosa. The clinical heterogeneity results from the different distribution of the blisters, severity of cutaneous lesions and extracutaneous signs. Onset of symptoms usually occurs at birth or shortly after and is transmitted both in an autosomal dominant and recessive pattern. The Igenomix Epidermolysis Bullosa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blisters ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Epidermolysis Bullosa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: ‐ Superficial blisters with minimal trauma located in the mucosa: oral, nasopharyngeal, ocular, genitourinary, GI or respiratory ‐ Crusted erosions ‐ Family history of blistering disease ‐ Nail dystrophy Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. 1 - Early initiation of treatment with a multidisciplinary team in the form of medical care for optimization of wound healing, nutritional management, and surgical care for reconstruction or malignancy. - Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. - Improvement of delineation of genotype-phenotype correlation. Genes & Diseases % GENE GENE OMIM DISEASES INHERITANCE* COVERAGE HGMD** (20X) 210 of ATP2C1 Familial Benign Chronic Pemphigus AD 99.95 210 CD151 Nephropathy With Pretibial Epidermolysis Bullosa And Deafness AR 100 3 of 3 CDSN Hypotrichosis, Peeling Skin Syndrome AD,AR 99.88 12 of 13 CHST8 Peeling Skin Syndrome AR 100 1 of 1 117 of COL17A1 Junctional Epidermolysis Bullosa, Epithelial Recurrent Erosion Dystrophy AD,AR 100 117 Autosomal Dominant Epidermolysis Bullosa Dystrophica, Autosomal Recessive Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa Pruriginosa , Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails, Transient Bullous Dermolysis Of The 861 of COL7A1 Newborn, Acral Dystrophic Epidermolysis Bullosa, Centripetalis Recessive AD,AR 100 863 Dystrophic Epidermolysis Bullosa, Dominant Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Simplex Superficialis , Generalized Dominant Dystrophic Epidermolysis Bullosa, Pretibial Dystrophic Epidermolysis Bullosa, Recessive Dystrophic Epidermolysis Bullosa Inversa Autosomal Recessive Exfoliative Ichthyosis, Ichthyosis Bullosa Ofsiemens- CSTA AR 100 5 of 5 like, Acral Peeling Skin Syndrome Congenital Erythroderma With Palmoplantar Keratoderma, Hypotrichosis, DSG1 AD,AR 99.89 42 of 42 And Hyper-IgeE, Striate Palmoplantar Keratoderma Arrhythmogenic Right Ventricular Dysplasia, Familial Isolated Dilated 167 of DSG2 AD 99.38 Cardiomyopathy 169 DSG4 Hypotrichosis Simplex, Monilethrix AR 99.97 17 of 17 Arrhythmogenic Right Ventricular Dysplasia, Familial Dilated Cardiomyopathy With Woolly Hair And Keratoderma, Lethal Acantholytic 366 of DSP AD,AR 99.91 Epidermolysis Bullosa, Keratosis Palmoplantaris Striata, Skin Fragility- 369 Woolly Hair Syndrome, Carvajal Syndrome DST Autosomal Recessive Epidermolysis Bullosa Simplex AR 99.08 19 of 19 EXPH5 Autosomal Recessive Epidermolysis Bullosa AR 98.34 9 of 10 FERMT1 Kindler Syndrome AR 99.83 78 of 81 FLG2 Peeling Skin Syndrome AR 99.95 4 of 4 GRIP1 Fraser Syndrome AR 100 17 of 17 Interstitial Lung Disease, Nephrotic Syndrome, And Congenital ITGA3 AR 99.2 11 of 11 Epidermolysis Bullosa ITGA6 Epidermolysis Bullosa Junctionalis With Pyloric Atresia AR 100 10 of 10 Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis 115 of ITGB4 Bullosa Simplex, Weber-Cockayne Type , Junctional Epidermolysis Bullosa, AD,AR 99.12 115 Non-Herlitz Type, Aplasia Cutis Congenita, Bullosa JUP Naxos Diseas , Lethal Acantholytic Epidermolysis Bullosa AD,AR 100 56 of 56 KLHL24 Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss AD 99.96 8 of 8 Bullous Erythroderma Ichthyosiformis Congenita Of Brocq, Ichthyosis Hystrix, Curth-Macklin Type , Cyclic Ichthyosis With Epidermolytic KRT1 AD,AR 100 67 of 67 Hyperkeratosis , Keratosis Palmoplantaris Striata III, Palmoplantar Keratoderma Bullous Erythroderma Ichthyosiformis Congenita Of Brocq , Ichthyosiform Congenital Reticular Erythroderma, Ichthyosis, Cyclic Ichthyosis With KRT10 AD,AR 98.32 69 of 76 Epidermolytic Hyperkeratosis, Autosomal Dominant Epidermolytic Ichthyosis Dermatopathia Pigmentosa Reticularis, Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type, Autosomal Recessive Epidermolysis 132 of KRT14 AD,AR 100 Bullosa Simplex, Epidermolysis Bullosa Simplex, Koebner Type , 132 Epidermolysis Bullosa Simplex, Weber-Cockayne Type, Naegeli Syndrome, 2 Epidermolysis Bullosa Simplex With Mottled Pigmentation, Naegeli- Franceschetti-Jadassohn Syndrome Dowling-Degos Disease, Epidermolysis Bullosa Herpetiformis, Dowling- Meara Type, Epidermolysis Bullosa Simplex With Mottled Pigmentation, Autosomal Recessive Epidermolysis Bullosa Simplex, Epidermolysis Bullosa Simplex Koebner Type , Epidermolysis Bullosa Simplex, Weber-Cockayne 165 of KRT5 AD,AR 99.99 Type, Epidermolysis Bullosa Simplex With Circinate Migratory Erythema, 165 Epidermolysis Bullosa Simplex With Mottled Pigmentation, Epidermolysis Bullosa Simplex, Generalized Intermediate , Epidermolysis Bullosa Simplex, Generalized Severe , Localized Epidermolysis Bullosa Simplex Junctional Epidermolysis Bullosa Herlitz Type, Junctional Epidermolysis LAMA3 AR 97.94 66 of 66 Bullosa Non-Herlitz Type, Laryngoonychocutaneous Syndrome Amelogenesis Imperfecta, Generalized Hypoplastic Typemicrodontia 119 of LAMB3 Generalized, Junctional Epidermolysis Bullosa Herlitz Type, Junctional AD,AR 99.99 120 Epidermolysis Bullosa Non-Herlitz Type Junctional Epidermolysis Bullosa Herlitz Type, Junctional Epidermolysis LAMC2 Bullosa Non-Herlitz Type, Junctional Epidermolysis Bullosa Inversa, AR 100 41 of 41 Junctional Epidermolysis Bullosa Generalized Intermediate and Severe MMP1 Autosomal Recessive Epidermolysis Bullosa Dystrophica AR 100 4 of 4 PKP1 Ectodermal Dysplasia/Skin Fragility Syndrome AR 100 18 of 18 Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis 113 of PLEC Bullosa Simplex With Muscular Dystrophy, Epidermolysis Bullosa Simplex AD,AR 99.98 113 With Nail Dystrophy, Epidermolysis Bullosa Simplex Ogna Type SERPINB8 Peeling Skin Syndrome AR 99.87 3 of 3 TGM5 Acral Peeling Skin Syndrome AR 100 26 of 26 *Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial. **Number of clinically relevant mutations according to HGMD Methodology Contact us Call +34 963 905 310 or send an email to [email protected] for any of the following objectives: • Get more information about the test. • Request your kit. • Request a pick up of the kit after collecting the sample. References 1. Fine, J. D., Bruckner-Tuderman, L., Eady, R. A., Bauer, E. A., Bauer, J. W., Has, C., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., Mellerio, J. E., Moss, C., Murrell, D. F., Shimizu, H., Uitto, J., Woodley, D., … Zambruno, G. (2014). Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. Journal of the American Academy of Dermatology, 70(6), 1103–1126. https://doi.org/10.1016/j.jaad.2014.01.903 2. Mariath, L. M., Santin, J. T., Schuler-Faccini, L., & Kiszewski, A. E. (2020). Inherited epidermolysis bullosa: update on the clinical and genetic aspects. Anais brasileiros de dermatologia, 95(5), 551–569. https://doi.org/10.1016/j.abd.2020.05.001 3. Lykova, S. G., Maksimova, Y. V., Nemchaninova, O. B., Guseva, S. N., Omigov, V. V., & Aidagulova, S. V. (2018). Vrozhdennyĭ bulleznyĭ épidermoliz [Inherited epidermolysis bullosa]. Arkhiv patologii, 80(4), 54–60. https://doi.org/10.17116/patol201880454 4. Has, C., & Fischer, J. (2019). Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Experimental dermatology, 28(10), 1146–1152. https://doi.org/10.1111/exd.13668 3 5. Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/ 6. Fine, J. (2010). Inherited epidermolysis bullosa: Past, present, and future. Annals of the New York Academy of Sciences, 1194(1), 213-222. doi:10.1111/j.1749-6632.2010.05463.x 7. Sawamura, D., Nakano, H., & Matsuzaki, Y. (2010). Overview of epidermolysis bullosa. The Journal of Dermatology, 37(3), 214-219. doi:10.1111/j.1346-8138.2009.00800.x 8. Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 4 .
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  • Ichthyosis: Case Report in a Colombian Man with Genetic Alterations in ABCA12 and HRNR Genes Ruben D

    Ichthyosis: Case Report in a Colombian Man with Genetic Alterations in ABCA12 and HRNR Genes Ruben D

    Arias‑Pérez et al. BMC Med Genomics (2021) 14:140 https://doi.org/10.1186/s12920‑021‑00987‑y CASE REPORT Open Access Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes Ruben D. Arias‑Pérez1, Salomón Gallego‑Quintero1, Natalia A. Taborda1 , Jorge E. Restrepo2, Renato Zambrano‑Cruz3 , William Tamayo‑Agudelo3, Patricia Bermúdez4, Constanza Duque4, Ismael Arroyave4, Johanna A. Tejada‑Moreno5, Andrés Villegas‑Lanau5, Alejandro Mejía‑García5, Wildeman Zapata6 , Juan C. Hernandez6* and Gina Cuartas‑Montoya3 Abstract Background: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its diferent types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. Case presentation: Here, we presented the case of a 19 years old male patient who was a premature infant and exhibited clinical features consistent with HI, including bright yellow hyperkeratotic plates with erythematous fssures that covered his entire body like a collodion baby. Currently, he exhibited erythroderma, photosensitivity, ectropion, auricular pavilion alterations, and musculoskeletal disorders, such as equinovarus feet, fngers, hands, and hypoplastic feet with contractures in fexion and marked difculty in fne motor skills.